ClinVar for MedGen (Select 767552) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375162	NM_152490.5(B3GALNT2):c.1315G>T (p.Glu439Ter)	B3GALNT2 (E439*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 3247816	NC_000001.10:g.(?_235612376)_(235616407_?)del	B3GALNT2	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 3247815	NC_000001.10:g.(?_235605109)_(235613675_?)del	B3GALNT2, TBCE	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 3024211	NM_152490.5(B3GALNT2):c.178G>C (p.Ala60Pro)	B3GALNT2 (A101P +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 3023926	NM_152490.5(B3GALNT2):c.40G>C (p.Gly14Arg)	B3GALNT2 (G14R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 3017553	NM_152490.5(B3GALNT2):c.841+1G>T	B3GALNT2 (G322V)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely pathogenic
Select item 3010951	NM_152490.5(B3GALNT2):c.1244G>A (p.Gly415Glu)	B3GALNT2 (G415E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 3007474	NM_152490.5(B3GALNT2):c.113-14G>A	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2995857	NM_152490.5(B3GALNT2):c.1307A>G (p.Tyr436Cys)	B3GALNT2 (Y436C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2981823	NM_152490.5(B3GALNT2):c.1152-17A>G	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2971692	NM_152490.5(B3GALNT2):c.219C>T (p.Thr73=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2902622	NM_152490.5(B3GALNT2):c.257A>C (p.Gln86Pro)	B3GALNT2 (Q127P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2902055	NM_152490.5(B3GALNT2):c.627C>T (p.Pro209=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2897672	NM_152490.5(B3GALNT2):c.1038A>G (p.Thr346=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2897410	NM_152490.5(B3GALNT2):c.1032G>A (p.Val344=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2887013	NM_152490.5(B3GALNT2):c.362-12C>G	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2884143	NM_152490.5(B3GALNT2):c.762+12T>C	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2866701	NM_152490.5(B3GALNT2):c.762+9T>G	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2863528	NM_152490.5(B3GALNT2):c.168C>T (p.Gly56=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2860642	NM_152490.5(B3GALNT2):c.1409T>A (p.Met470Lys)	B3GALNT2, TBCE (M470K)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2812344	NM_152490.5(B3GALNT2):c.575G>T (p.Arg192Leu)	B3GALNT2 (R192L +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2807940	NM_152490.5(B3GALNT2):c.261-7C>A	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2794004	NM_152490.5(B3GALNT2):c.1293G>A (p.Gly431=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2787201	NM_152490.5(B3GALNT2):c.1375C>T (p.Leu459=)	B3GALNT2, TBCE	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2760356	NM_152490.5(B3GALNT2):c.181C>T (p.Arg61Cys)	B3GALNT2 (R102C +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2760106	NM_152490.5(B3GALNT2):c.947dup (p.Tyr317fs)	B3GALNT2 (Y317fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 2736330	NM_152490.5(B3GALNT2):c.1050T>C (p.Asn350=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2730146	NM_152490.5(B3GALNT2):c.1057C>T (p.Leu353=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2707062	NM_152490.5(B3GALNT2):c.1458A>G (p.Lys486=)	B3GALNT2, TBCE	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2664171	NM_152490.5(B3GALNT2):c.779T>A (p.Leu260Ter)	B3GALNT2 (L260* +1 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely pathogenic
Select item 2584939	NM_152490.5(B3GALNT2):c.266T>C (p.Leu89Pro)	B3GALNT2 (L130P +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439461	NM_152490.5(B3GALNT2):c.215G>A (p.Ser72Asn)	B3GALNT2 (S113N +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439460	NM_152490.5(B3GALNT2):c.37C>T (p.Leu13Phe)	B3GALNT2 (L13F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439459	NM_152490.5(B3GALNT2):c.701T>C (p.Val234Ala)	B3GALNT2 (V234A +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439457	NM_152490.5(B3GALNT2):c.974T>C (p.Val325Ala)	B3GALNT2 (V325A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439456	NM_152490.5(B3GALNT2):c.280A>G (p.Ile94Val)	B3GALNT2 (I135V +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439455	NM_152490.5(B3GALNT2):c.185A>G (p.Asn62Ser)	B3GALNT2 (N103S +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2439453	NM_152490.5(B3GALNT2):c.922G>A (p.Ala308Thr)	B3GALNT2 (A308T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2427393	NC_000001.10:g.(?_235543365)_(235619016_?)dup	B3GALNT2, TBCE	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2427392	NC_000001.10:g.(?_235616382)_(235643485_?)del	B3GALNT2	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 2417564	NM_152490.5(B3GALNT2):c.1056G>A (p.Leu352=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2320311	NM_152490.5(B3GALNT2):c.1088T>G (p.Leu363Arg)	B3GALNT2 (L363R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more	GUncertain significance
Select item 2201801	NM_152490.5(B3GALNT2):c.785A>C (p.His262Pro)	B3GALNT2 (H303P +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2197312	NM_152490.5(B3GALNT2):c.636A>G (p.Gln212=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2196612	NM_152490.5(B3GALNT2):c.1443G>C (p.Leu481=)	B3GALNT2, TBCE	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2187751	NM_152490.5(B3GALNT2):c.1026-18T>C	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2173329	NM_152490.5(B3GALNT2):c.476G>A (p.Ser159Asn)	B3GALNT2 (S200N +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2171108	NM_152490.5(B3GALNT2):c.362-10C>T	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2166330	NM_152490.5(B3GALNT2):c.1030G>A (p.Val344Met)	B3GALNT2 (V344M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2165826	NM_152490.5(B3GALNT2):c.555+6C>T	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2163586	NM_152490.5(B3GALNT2):c.1223C>G (p.Pro408Arg)	B3GALNT2 (P408R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2162012	NM_152490.5(B3GALNT2):c.1099T>G (p.Phe367Val)	B3GALNT2 (F367V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2157573	NM_152490.5(B3GALNT2):c.1211G>C (p.Ser404Thr)	B3GALNT2 (S404T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2155288	NM_152490.5(B3GALNT2):c.952GAT[1] (p.Asp319del)	B3GALNT2 (D319del)	Microsatellite (inframe_deletion)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2154634	NM_152490.5(B3GALNT2):c.519G>A (p.Arg173=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2153976	NM_152490.5(B3GALNT2):c.290A>G (p.His97Arg)	B3GALNT2 (H138R +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2152878	NM_152490.5(B3GALNT2):c.86C>A (p.Ala29Asp)	B3GALNT2 (A29D)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2143038	NM_152490.5(B3GALNT2):c.1469G>A (p.Arg490Gln)	B3GALNT2, TBCE (R490Q)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2139764	NM_152490.5(B3GALNT2):c.112+14G>A	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2139572	NM_152490.5(B3GALNT2):c.438C>T (p.Ser146=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2123256	NM_152490.5(B3GALNT2):c.355A>C (p.Asn119His)	B3GALNT2 (N119H +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2117097	NM_152490.5(B3GALNT2):c.1337G>A (p.Trp446Ter)	B3GALNT2 (W446*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 2116703	NM_152490.5(B3GALNT2):c.419C>T (p.Pro140Leu)	B3GALNT2 (P181L +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2115299	NM_152490.5(B3GALNT2):c.1217C>T (p.Ala406Val)	B3GALNT2 (A406V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2113653	NM_152490.5(B3GALNT2):c.1069G>C (p.Asp357His)	B3GALNT2 (D357H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2112184	NM_152490.5(B3GALNT2):c.461C>T (p.Pro154Leu)	B3GALNT2 (P154L +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2109632	NM_152490.5(B3GALNT2):c.752G>C (p.Arg251Thr)	B3GALNT2 (R251T +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2109624	NM_152490.5(B3GALNT2):c.730A>G (p.Asn244Asp)	B3GALNT2 (N244D +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2108574	NM_152490.5(B3GALNT2):c.907C>G (p.Leu303Val)	B3GALNT2 (L303V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2105038	NM_152490.5(B3GALNT2):c.1461_1467delinsTC (p.Lys488fs)	B3GALNT2, TBCE (K488fs)	Indel (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2099019	NM_152490.5(B3GALNT2):c.245C>G (p.Pro82Arg)	B3GALNT2 (P123R +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2092331	NM_152490.5(B3GALNT2):c.260+18T>C	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2084388	NM_152490.5(B3GALNT2):c.51G>T (p.Leu17=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2084027	NM_152490.5(B3GALNT2):c.379G>A (p.Glu127Lys)	B3GALNT2 (E168K +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2080363	NM_152490.5(B3GALNT2):c.259C>T (p.Arg87Cys)	B3GALNT2 (R87C +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2079914	NM_152490.5(B3GALNT2):c.1366C>A (p.Gln456Lys)	B3GALNT2 (Q456K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2079700	NM_152490.5(B3GALNT2):c.310G>A (p.Glu104Lys)	B3GALNT2 (E104K +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2077983	NM_152490.5(B3GALNT2):c.33T>G (p.Cys11Trp)	B3GALNT2 (C11W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2070943	NM_152490.5(B3GALNT2):c.1026G>T (p.Trp342Cys)	B3GALNT2 (W342C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2068154	NM_152490.5(B3GALNT2):c.182G>A (p.Arg61His)	B3GALNT2 (R61H +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2065649	NM_152490.5(B3GALNT2):c.1026-5A>T	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2061998	NM_152490.5(B3GALNT2):c.1026-13T>C	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2060700	NM_152490.5(B3GALNT2):c.669C>T (p.Ile223=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2059007	NM_152490.5(B3GALNT2):c.335G>A (p.Cys112Tyr)	B3GALNT2 (C153Y +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2057177	NM_152490.5(B3GALNT2):c.210AAG[1] (p.Arg71del)	B3GALNT2 (R112del +1 more)	Microsatellite (inframe_deletion)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2054746	NM_152490.5(B3GALNT2):c.1187A>G (p.Lys396Arg)	B3GALNT2 (K396R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2052882	NM_152490.5(B3GALNT2):c.1467A>G (p.Glu489=)	B3GALNT2, TBCE	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2051425	NM_152490.5(B3GALNT2):c.1209G>A (p.Pro403=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2045974	NM_152490.5(B3GALNT2):c.113-14_113-12del	B3GALNT2	Deletion (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2043957	NM_152490.5(B3GALNT2):c.1486C>G (p.Arg496Gly)	B3GALNT2, TBCE (R496G)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2042769	NM_152490.5(B3GALNT2):c.72C>T (p.Arg24=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2041323	NM_152490.5(B3GALNT2):c.744A>T (p.Gly248=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2034759	NM_152490.5(B3GALNT2):c.1209_1257dup (p.Lys420fs)	B3GALNT2 (K420fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GPathogenic
Select item 2029913	NM_152490.5(B3GALNT2):c.361+20G>A	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2026822	NM_152490.5(B3GALNT2):c.651+3A>G	B3GALNT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2017915	NM_152490.5(B3GALNT2):c.861C>T (p.His287=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2017646	NM_152490.5(B3GALNT2):c.951T>C (p.Tyr317=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2011286	NM_152490.5(B3GALNT2):c.620A>G (p.Tyr207Cys)	B3GALNT2 (Y248C +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance
Select item 2006744	NM_152490.5(B3GALNT2):c.690C>T (p.Leu230=)	B3GALNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GLikely benign
Select item 2004885	NM_152490.5(B3GALNT2):c.85G>T (p.Ala29Ser)	B3GALNT2 (A29S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	GUncertain significance

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